726341009: Partial trisomy of chromosome 3 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498270019 Partial trisomy of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498271015 Duplication of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498272010 Partial trisomy of chromosome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489381000241111 trisomie partielle du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of chromosome 3	Is a	Anomaly of chromosome pair 3	true	Inferred relationship	Some
Partial trisomy of chromosome 3	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 3	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 3	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 3	Finding site	Chromosome pair 3	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3p partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 3	Inferred relationship	Some
3q partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 3	Inferred relationship	Some
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Is a	True	Partial trisomy of chromosome 3	Inferred relationship	Some
A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	Is a	True	Partial trisomy of chromosome 3	Inferred relationship	Some

This concept is not in any reference sets